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rs786204189

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGACATGG;GGACATGG) 0 common in clinvar
Make rs786204189(-;-)
Make rs786204189(-;GGACATGG)
ReferenceGRCh38.p2 38.2/146
Chromosome19
Position41357948
GeneB9D2
is asnp
is mentioned by
dbSNPrs786204189
dbSNP (old)rs786204189
ClinGenrs786204189
ebirs786204189
HLIrs786204189
Exacrs786204189
Gnomadrs786204189
Varsomers786204189
Maprs786204189
PheGenIrs786204189
Biobankrs786204189
1000 genomesrs786204189
hgdprs786204189
ensemblrs786204189
gopubmedrs786204189
geneviewrs786204189
scholarrs786204189
googlers786204189
pharmgkbrs786204189
gwascentralrs786204189
openSNPrs786204189
23andMers786204189
23andMe allrs786204189
SNP Nexus

SNPshotrs786204189
SNPdbers786204189
MSV3drs786204189
GWAS Ctlgrs786204189
Max Magnitude0
ClinVar
Risk rs786204189(-;-)
Alt rs786204189(-;-)
Reference Rs786204189(GGACATGG;GGACATGG)
Significance Probable-Pathogenic
Disease Joubert syndrome
Variation info
Gene B9D2 TMEM91
CLNDBN Joubert syndrome
Reversed 1
HGVS NC_000019.9:g.41863853_41863860delCCATGTCC
CLNSRC
CLNACC RCV000168253.1,